chr20-41084486-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_003286.4(TOP1):c.532A>C(p.Asn178His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003286.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TOP1 | NM_003286.4 | c.532A>C | p.Asn178His | missense_variant | 8/21 | ENST00000361337.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TOP1 | ENST00000361337.3 | c.532A>C | p.Asn178His | missense_variant | 8/21 | 1 | NM_003286.4 | P1 | |
TOP1 | ENST00000681058.1 | n.686A>C | non_coding_transcript_exon_variant | 8/20 | |||||
TOP1 | ENST00000681392.1 | n.1652A>C | non_coding_transcript_exon_variant | 4/18 | |||||
TOP1 | ENST00000681113.1 | c.532A>C | p.Asn178His | missense_variant, NMD_transcript_variant | 8/23 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 09, 2021 | The c.532A>C (p.N178H) alteration is located in exon 8 (coding exon 8) of the TOP1 gene. This alteration results from a A to C substitution at nucleotide position 532, causing the asparagine (N) at amino acid position 178 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.